Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

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Bethesda,
Maryland20892

Purpose:

The goal of the project is to identify and clone the gene(s) responsible for the Alagille
Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to
define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes
within this region which are, by definition, candidate genes for the disease. In a
collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase
chromosomes and genomic DNA from affected individuals will be studied for subchromosomal
deletions and for mutations in the candidate genes. Characterization of genes involved in
Alagille syndrome could provide important insight into the pathophysiology of the disease,
the development of normal liver and treatment of this disease. Recently, we and others
found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.

Study summary:

The goal of the project is to identify and clone the gene(s) responsible for the Alagille
Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to
define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes
within this region which are, by definition, candidate genes for the disease. In a
collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase
chromosomes and genomic DNA from affected individuals will be studied for subchromosomal
deletions and for mutations in the candidate genes. Characterization of genes involved in
Alagille syndrome could provide important insight into the pathophysiology of the disease,
the development of normal liver and treatment of this disease.

Criteria:

All enrolled affected subjects, whose samples will be analyzed in this study, must meet
the criteria for the clinical diagnosis of Alagille Syndrome (Syndromic Bile Duct Paucity)
which include liver biopsy findings consistent with Alagille Syndrome and at least 3 of
the 5 primary clinical criteria: cholestasis, characteristic face, posterior embryotoxon,
"butterfly" vertebrae and cardiac findings.

NCT ID:

NCT00001642

Primary Contact:

N/A

Backup Contact:

N/A

Location Contact:

Bethesda, Maryland 20892United States

There is no listed contact information for this specific location.

Site Status: N/A

Data Source: ClinicalTrials.gov

Date Processed: February 21, 2018

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